Rare genetic disease

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ORPHA:98053
Who is this for?
Show terms as
9Active trials28Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Apr 2026Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

National Human Genome Research Institute (NHGRI)

TrialRECRUITING
Dec 2025Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

Assistance Publique Hopitaux De Marseille — NA

TrialNOT YET RECRUITING
Oct 2025Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Baylor College of Medicine — NA

TrialRECRUITING
Oct 2025The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders

Bahçeşehir University — NA

TrialRECRUITING
May 2025TRIAGE-GS: Towards Reducing Inefficiencies Affecting Genetics Encounters Through Genome Sequencing

The Hospital for Sick Children — NA

TrialENROLLING BY INVITATION
May 2025Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.

IRCCS Policlinico S. Donato

TrialRECRUITING
Feb 2025MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder

University Hospital, Rouen

TrialRECRUITING
Dec 2024Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

University Hospital Freiburg — NA

TrialRECRUITING
Nov 2024Genomic Profiling of Genetic and Rare Diseases

Fondazione Policlinico Universitario Agostino Gemelli IRCCS — NA

TrialRECRUITING
Oct 2024PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

IRCCS Azienda Ospedaliero-Universitaria di Bologna

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Rare genetic disease.

9 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

9 recruitingView all trials with filters →
N/A3 trials
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
N/A
Actively Recruiting
PI: Estelle COLIN, MD-PhD (escolin@chu-angers.fr) · Sites: Angers
Genomic Profiling of Genetic and Rare Diseases
N/A
Actively Recruiting
PI: Giovanni Scambia (Fondazione Policlinico Universitario A. Gemelli, I) · Sites: Rome, Lazio · Age: 090 yrs
Overcoming Barriers to Accessing Genetic Medicine
N/A
Active
· Sites: Boston, Massachusetts · Age: 1899 yrs
Other5 trials
UW Undiagnosed Genetic Diseases Program
Actively Recruiting
PI: Bryn Webb, MD (University of Wisconsin, Madison) · Sites: Madison, Wisconsin · Age: 0100 yrs
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Actively Recruiting
PI: William A Gahl, M.D. (National Human Genome Research Institute (NHGRI)) · Sites: Birmingham, Alabama; Huntsville, Alabama +31 more · Age: 0100 yrs
PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Actively Recruiting
PI: Tommaso Pippucci, Biologist (IRCCS Azienda Ospedaliero-Universitaria di Bologna) · Sites: Bologna, Bologna
Research for Individualized Therapeutics in Rare Genetic Disease
Enrolling by Invitation
PI: Margot A Cousin, Ph.D. (Mayo Clinic) · Sites: Scottsdale, Arizona; Jacksonville, Florida +1 more
Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
Actively Recruiting
PI: Monica Wojcik, MD (Boston Children's Hospital) · Sites: Boston, Massachusetts · Age: 04 yrs

Specialists

Showing 25 of 28View all specialists →
WM
William A Gahl, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 12 active trials
LM
Leslie G Biesecker, M.D.
BETHESDA, MD
Specialist
PI on 8 active trials
LM
Laryssa A Huryn, M.D.
NEW YORK, NY
Specialist
PI on 5 active trials
AM
An N Dang Do, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 4 active trials
CM
Carlos R Ferreira Lopez, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 2 active trials
TM
Tammuella Chrisentery-Singleton, MD
Phoenix, Arizona
Specialist

Rare Disease Specialist

PI on 2 active trials
AP
Anna Jansen, MD, PhD
Silver Spring, Maryland
Specialist

Rare Disease Specialist

PI on 2 active trials
MM
Michael Recht, MD, PhD, MBA
CLEVELAND, OH
Specialist
PI on 1 active trial
JM
Jessica R Wilson, MD, MS
Philadelphia, Pennsylvania
Specialist

Rare Disease Specialist

BP
Bernard Maitre, MD, PhD
Specialist
PI on 1 active trial
MM
Mark T Dransfield, MD
NORTH SALT LAKE, UT
Specialist
PI on 1 active trial
TD
Tobias Haack, Dr.
Specialist
PI on 2 active trials
OD
Olaf Rieß, Prof. Dr.
Specialist
PI on 2 active trials
MM
Michael N Sack, M.D.
SPEARFISH, SD
Specialist
PI on 3 active trials
OD
Olaf Riess, Prof. Dr.
Specialist
PI on 1 active trial
TP
Tuğçe Tahmaz, PhD
Istanbul
Specialist

Rare Disease Specialist

OK
Olivia Kim-McManus
Specialist
PI on 1 active trial
DB
Danielle Baribeau
Specialist
PI on 1 active trial
EC
Estelle COLIN
Specialist
PI on 1 active trial
MC
Margot A Cousin
Specialist
PI on 1 active trial
GS
Giovanni Scambia
Specialist
PI on 2 active trials

Treatment Centers

8 centers
⚗️ Trial Site

Boston Children's Hospital

📍 Boston, Massachusetts

⚗️ Trial Site

University of Pennsylvania

📍 Philadelphia, Pennsylvania

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Rare genetic disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Rare genetic disease

Disease timeline:

New recruiting trial: Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: Expanding NGS Data with Optical Genome Mapping (OGM)

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: CAnadian CAncers With Rare Molecular Alterations (CARMA) - Basket Real-world Observational Study (BROS)

A new clinical trial is recruiting patients for Rare genetic disease

New recruiting trial: Genetic Causes of Discrepant Clinic in Monogenic Twins

A new clinical trial is recruiting patients for Rare genetic disease

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Rare genetic disease

Are there clinical trials for Rare genetic disease?

Yes — 9 recruiting clinical trials are currently listed for Rare genetic disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Rare genetic disease?

25 specialists and care centers treating Rare genetic disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.