Registries & Studies

There are 111 Registries and Studies resources.

22q11.2 Deletion Syndrome (ClinicalTrials.gov)

AACE Clinical Practice Guidelines for Growth Hormone Use in Adults and Children (PDF Document 44 KB)
The approved dose for use of hGH in Turner syndrome patients.

Addiction Medications for Adolescents (NIDA)
A research-based guide with information about various medication treatments for substance use disorders; National Institute on Drug Abuse.

Adolescent Tobacco Cessation (clinicaltrials.gov)

Adolescent Weight Control Registry (WCDRC)
Registry for adolescents, site includes, inspiring weight loss stories and interesting facts about people in the registry; Weight Control and Diabetes Research Center.

Alcoholism clinical trials (NIAAA)
National Institute on Alcohol Abuse and Alcoholism conducts various alcoholism research studies at the NIH campus in Bethesda, Maryland. While participating in medical research, you will receive standard treatment for alcoholism, which includes motivational and cognitive behavior therapies; individual, group and family counseling; and an option of attending self-help groups such as AA and more.

Angelman Syndrome Studies (clinicaltrials.gov)

Angelman, Rett, and Prader-Willi Syndromes Research Consortium
An integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in genetic and neurodevelopmental disorders and maintaining a Patient Contact Registry.

Anxiety in Children (clinicaltrials.gov)

Arginase Deficiency (clinicaltrials.gov)

Argininosuccinic Aciduria (clinicaltrials.gov)

Brain Injuries in Children (clinicaltrials.gov)
Listing of clinical trials related to brain injuries in children.

CP Clinical Trials (ClinicalTrials.gov)

CP Registry

CP Research Trials (Centerwatch.com)

Celiac disease studies (clinicaltrials.gov)

Childhood Absence Epilepsy (clinicaltrials.gov)

Childhood Hearing Loss (clinicaltrials.gov)
Clinical trials involving hearing loss. Trials may be recruiting subjects - compensation offered in some cases; registered with the National Institutes of Health.

Childhood absence epilepsy, initial treatment trial (Clinicaltrials.gov)

Children with Tourette Syndrome (clinicaltrials.gov)
Lists numerous studies focusing on children with TS; includes etiology, manifestations, and treatment studies.

Children's Hearing Aids Studies
ClinicalTrials.gov studies with a search of hearing aids AND children.

Clinical Trials for Preterm Infants (clinicaltrials.gov)

Clinical Trials in ADHD (clinicaltrials.gov)
Trial listings for ADHD with "completed," "recruiting," and "active" status noted.

Clinical Trials in Children with Asthma (clinicaltrials.gov)
A list of trials registered with the National Institutes of Health; some may be of interest and might offer opportunity to participate in research.

Clinical Trials in Children with Down Syndrome (clinicaltrials.gov)

Clinical Trials in DMD (clinicaltrials.gov)
List of current clinical trials in Duchenne muscular dystrophy; compiled by ClinicalTrials.gov.

Clinical Trials in Fabry (clinicaltrials.gov)
List of current clinical trials in Fabry disease; a service of the U.S. National Institutes of Health.

Clinical Trials in MMD (clincialtrials.gov)
A listing of registries and clinical trials for children with MMD; National Institutes of Health.

Clinical Trials on Headache in Children (clinicaltrial.gov)

Clinical Trials on Tracheostomies (clinicaltrials.gov)
Lists current studies related to tracheostomy and children; sponsored by the U.S. National Institute of Health.

Clinical Trials/Studies Related to TSC (TSAlliance.org)
A list compiled and maintained by the Tuberous Sclerosis Alliance with clinical trials and clinical studies that have obtained Institutional Review Board approval.

Clinical trials in Fragile X (clinicaltrials.gov)
Listing of current and recent studies related to Fragile X.

Clinical trials in NF1 (clinicaltrials.gov)
From the National Institutes of Health, a compilation of clinical trials in NF1 and related conditions.

Clinical trials in XXY (Klinefelter) syndrome (clinicaltrials.gov)

Clinical trials in children and adolescents with GERD (clinicaltrials.gov)

Clinical trials, substance abuse (National Institute on Drug Abuse)

Cochlear Implants (clinicaltrials.gov)
Listing of clinical trials of which may be recruiting subjects; National Institutes of Health.

Congenital Heart Disease, Children (ClinicalTrials.gov)
Comprehensive list of research studies related to congenital heart disease; National Institutes of Health, clinicaltrials.gov.

Critical Congenital Heart Disease (clinicaltrials.gov)

Cystic Fibrosis, Children or Adolescents (clinicaltrials.gov)

DS-Connect: The Down Syndrome Registry (NIH)
Developed by the Down Syndrome Consortium, led by the National Institutes of Health and involving several Down syndrome advocacy and professional organizations, to offer opportunities for patients/families and researchers to connect and to allow access to research data by families.

DSM-5 Diagnostic Criteria For Substance Use Disorders

E-Cigarettes and Youth (clinicaltrials.gov)

Early Developmental Intervention Programmes Post-Hospital Discharge to Prevent Motor and Cognitive Impairments in Preterm Infants
A review of 22 trials supports early developmental intervention programs post discharge from hospital for preterm infants to improve cognitive development in the short to medium term (up to pre-school age).

Effect of sex chromosomes on brain development (NIMH)
This study hopes to determine whether brain-imaging studies of children with sex chromosome variations will help uncover core biological features of these chromosomal conditions; National Institute of Mental Health.

Fabry Registry (Genzyme)
Any person with a confirmed diagnosis of Fabry disease is eligible to participate regardless of disease type, treatment status, or treatment choice.

Fabry Registry Annual Report 2013 (PDF Document 724 KB)
An abbreviated schedule of assessments and testing for pediatric Fabry patients can be found in Appendix 4 (pg. 12 of the doc / pg. 14 with pdf finder).

Family-Centered Care Self-Assessment Tool
Provides an opportunity for reflection and quality improvement activities related to family-centered care, for families and for healthcare providers to assess care for all children and youth, and also has some questions that are specific to the needs of children and youth with special health care needs and their families. Developed by Family Voices

Fetal Alcohol Spectrum Disorders and Children (clinicaltrials.gov)
An up-to-date list of clinical trials related to FASDs

Headache Clinical Trials (clinicaltrials.gov)

IRSF medication trials
International Rett Syndrome Foundation membership required to view this information.

Infantile Spasms (Clinicaltrials.gov)

Inflammatory Bowel Disease (clincialtrials.gov)
A listing of registries and clinical trials for children with inflammatory bowel disease; National Institutes of Health.

Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents (NHLBI)
Integrated guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents; National Heart, Lung, and Blood Institute.

Intellectual Disabilities (clinicaltrials.gov)

Is the Asthma Action Plan Working? A Tool for School Nurse Assessment (NAEPP)
A tool to assists school nurses in determining how well an asthma action plan is working for a student; National Asthma Education and Prevention Program.

LCHADD/TFP Deficiency in Children (ClinicalTrials.gov)

Laboratory Guidelines for Turner Syndrome (ACMG)
Provides information on appropriate pre- and postnatal diagnostic cytogenetic studies for Turner syndrome; American College of Medical Genetics and Genomics.

Leukodystrophy (clinicaltrials.gov)

MCADD (clinicaltrials.gov)

MPS I (clinicaltrials.gov)

Malonic Aciduria (ClinicalTrials.gov)

Maternal Depression (clinicaltrials.gov)
Listing of open trials related to maternal depression.

Mental Health Clinical Trials (NIMH)
Links to descriptions of clinical trials related to numerous mental health conditions, including ADHD, anxiety, and depression; National Institute of Mental Health.

Methylmalonic Acidemia in Children (ClinicalTrials.gov)

Millon Adolescent Clinical Inventory (MACI)
The MACI inventory supplements the Millon Adolescent Personality Inventory (MAPI) in that it was developed specifically for use in clinical, residential, and correctional settings. It is useful primarily in the evaluation of troubled adolescents, and may be used for diagnostic assistance, in formulating treatment plans, and as an outcome measure; fee-based.

Minnesota Multiphasic Personality Inventory®-Adolescent (MMPI®-A)
Assessment with 478 True-False items for age 14-18 years old; fee based.

Myotonic Dystrophy Foundation Family Registry (PatientCrossroads)
Connects patients to researchers and allows patients to compare their symptoms with those of other patients.

NIH list of current clinical trials relating to Depression

National Institute of Mental Health Current Clinical Trials - Depression

National Registry of Myotonic Dystrophy Patients (University of Rochester)
Accelerates research in myotonic dystrophy and FSH dystrophy by connecting patients with researchers, collecting longitudinal data to track disease progression, and disseminating information to families, researchers, and care providers.

Otitis Media with Effusion (clinicaltrials.org)
Clinical trials related to OME in children; National Institutes of Health.

PAP in Children (clinicaltrials.gov)
An up to date listing of studies in these forms of non-invasive ventilation.

Pediatric Constipation (clinicaltrials.gov)

Pediatric Evaluation of Disability Inventory (PEDI)
Helps evaluate functional disabilities of children ages 6 months to 7 years old; completion time of 45-60 minutes; manual scoring; purchase required.

Prader-Willi Syndrome Studies (ClinicalTrials.gov)
List of studies related to PWS; a service of the U.S. National Institutes of Health.

Prescription Drug Monitoring Programs (NASCSA)
Electronic databases which collect, maintain and disseminate controlled substance prescription information specific to each jurisdiction's laws and regulations; National Association of State Controlled Substances Authorities.

Prevention of Pediatric Overweight and Obesity (AAP)
Dietary recommendations; American Academy of Pediatrics, 1995.

Prevention of Pediatric Overweight and Obesity (AAP)
Policy and summary regarding health supervision recommendations; American Academy of Pediatrics.

Propionic Acidemia in Children (ClinicalTrials.gov)

Rare Diseases Clinical Research Network Registry
A place for patients with rare diseases, such as Rett syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, can register and be contacted about clinical research opportunities and updates on the progress of research projects. The registry is anonymous and free of charge.

Registry – University of Rochester Medical Center

Research Studies in CdLS (CdLS Foundation)

Research in DMD (endduchenne.org)
Listing and explanation of clinical trials for DMD; Parent Project Muscular Dystrophy.

Rett Syndrome (clinicaltrials.gov)
Lists clinical studies that have an active, recruiting, and completed status; National Institutes of Health.

Rome III Diagnostic Criteria (PDF Document 98 KB)

Severe Combined Immunodeficiency (SCID) (clinicaltrials.gov)

Sickle Cell Disease (ClinicalTrials.gov)

Sleep Apnea in Children (clinicaltrials.gov)

Spina Bifida Clinical Trials

Spinal Cord Injuries Clinical Trials (CenterWatch)
Lists trials by state.

Spinal Muscular Atrophy (clinicaltrials.gov)

Students with Chronic Illnesses: Guidance for Families, Schools, and Students (NHLBI)
Two-page guidance sheet presenting positive actions schools and families can take to address multiple chronic diseases. Facilitates compliance with applicable federal laws; National Heart, Lung, and Blood Institute.

Studies Related to Autism (clinicaltrials.gov)
A current list of clinical trials (active, recruiting, and recently completed) of autism and related conditions.

Studies of Complementary & Alternative Medicine (clinicaltrials.gov)
A current list of studies of CAM therapies and utilization registered with ClinicalTrials.gov

Studies of Galactosemia (clinicaltrials.gov)
Current listings of registered studies of galactosemia; sponsored by the National Institutes of Health.

Studies of treatment of CMV-related hearing loss (clinical trials.gov)
From the National Institutes of Health, a list of studies addressing treatment of hearing loss related to CMV infection.

Studies related to foster care (clinical trials.gov).

The Adverse Childhood Experiences Study (CDC)
One of the largest investigations ever conducted to assess associations between childhood maltreatment and later-life health and well-being; Centers for Disease Control and Prevention.

The Childhood and Adolescent Migraine Prevention Study (CHAMP)
Ages 8-17, 34-week study, paid, comparing two medicines--amitriptyline and topiramate--with a placebo. Only one participant so far; need 16 total. May end study for lack of participants. Study being conducted at the University of Utah Clinical Neurosciences Center.

Thin Film Spectacle Coatings to Reduce Light Sensitivity and Headaches in Child and Adolescent Patients with Migraine
ages 7-18, a 12-week study wearing lenses with a coating to minimize light. No medications involved. Study conducted through the University of Utah's Clinical Neurosciences Center.

Toolkit for individuals with Intellectual Disabilities, their families and caregivers
The series, “Appropriate Use of Psychotropic Medications for People with IDD: Helping Individuals Get the Best Behavioral Health Care.” Online health training in 8 brief modules. For people supporting adults with intellectual and developmental disabilities to engage more effectively with health care providers and strengthen the health care relationship. Created by Vanderbilt Kennedy Center in partnership with Tennessee's Department of Intellectual and Developmental Disabilities and Medicaid agency, TennCare.

Tuberous Sclerosis (clinicaltrials.gov)
A list of trials registered with the National Institutes of Health; some may be of interest and might offer opportunity to participate in research.

Turner Syndrome, Children (ClinicalTrials.gov)

Tyrosinemia Type 1 (clinicaltrials.gov)
A list of clinical trials related to tyrosinemia type 1 that are registered with the National Institutes of Health.

Urea cycle disorders consortium (Rare Diseases Network)
A consortium bringing together researchers and patients for clinical trials.

Utah Autism and Developmental Disabilities Monitoring
The Utah Autism and Developmental Disabilities Monitoring (UT-ADDM) Project collects information about the number of individuals in Utah who have autism spectrum disorders (ASDs) and other developmental disabilities (DDs). Changes in ASD prevalence are studied in specific places and populations over time.

Very long chain acyl-CoA dehydrogenase deficiency (clinicaltrials.gov)

Vital signs at different ages (Emedicine)

XXY Syndrome Study (Thomas Jefferson University)
Geneticists at Thomas Jefferson University are collecting information to better characterize physical characteristics and learning styles of individuals with XXY syndrome.

Yale Child Study Center Autism Research Studies
The Yale Child Study Center is recruiting patients for multiple autism-related studies.