Chondrodysplasia punctata

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:93442
Who is this for?
Show terms as
1Active trials4Specialists8Treatment centers

Where are you in your journey?

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

Overview

Also known as:

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Feb 2026Exploring Mild Electrical Vestibular Stimulation as a New Treatment for Dizziness and Migraine Symptoms

University of Calgary — NA

TrialNOT YET RECRUITING
Nov 2025Posturography Rehabilitation and Pelvic Floor Training on Urinary Incontinence in Women

Mohammed V University in Rabat — NA

TrialRECRUITING
Nov 2025A Study to Assess Change in Sleep Disturbances of Adult Participants With Advanced Parkinson's Disease Receiving Subcutaneous Foslevodopa/Foscarbidopa

AbbVie

TrialRECRUITING
Nov 20253D Biomimetic Spine Unit Model Through the Integration of Bioprinting and Transcriptomics (CDP-SUBT)

I.R.C.C.S Ospedale Galeazzi-Sant'Ambrogio

TrialRECRUITING
Aug 2025Vestibular and Postural Function in Children Suspected of Balance Disorders

Gødstrup Hospital

TrialRECRUITING
Aug 2025Vestibular and Postural Function in an Unselected Group of Children With Sensorineural Hearing Loss

Gødstrup Hospital

TrialRECRUITING
Jun 2025Normative Data of Vestibular and Postural Function in Danish Children

Gødstrup Hospital

TrialRECRUITING
Nov 2024Study To Assess Effectiveness and Adverse Events of Foscarbidopa/ Foslevodopa in Adult Participants With Advanced Parkinson Disease in Real Life Setting

AbbVie

TrialACTIVE NOT RECRUITING
Jul 2024Non Motor Symptoms in Glucocerebrosidase-related Parkinson's Disease

Juan Pablo Romero. MD, PhD

TrialENROLLING BY INVITATION
Apr 2022Population Cohort Set-up for the Epidemiological Assessment of Balance Disorders in Elderly People

Fundacio d'Investigacio en Atencio Primaria Jordi Gol i Gurina

TrialACTIVE NOT RECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Chondrodysplasia punctata.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Rhizomelic Chondrodysplasia Punctata Registry
Actively Recruiting
PI: Mahim Jain, MD, PhD (Nemours) · Sites: Wilmington, Delaware

Specialists

4 foundView all specialists →
NM
Nancy E Braverman, MD, MS
BALTIMORE, MD
Specialist
PI on 2 active trials
FM
Fazıl N Ardıç, MD
Specialist
PI on 2 active trials
TS
Tara Smith
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 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

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Chondrodysplasia punctata.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Chondrodysplasia punctataForum →

No community posts yet. Be the first to share your experience with Chondrodysplasia punctata.

Start the conversation →

Latest news about Chondrodysplasia punctata

Disease timeline:

New recruiting trial: Normative Data of Vestibular and Postural Function in Danish Children

A new clinical trial is recruiting patients for Chondrodysplasia punctata

New recruiting trial: A Study to Assess Change in Sleep Disturbances of Adult Participants With Advanced Parkinson's Disease Receiving Subcutaneous Foslevodopa/Foscarbidopa

A new clinical trial is recruiting patients for Chondrodysplasia punctata

New recruiting trial: Posturography Rehabilitation and Pelvic Floor Training on Urinary Incontinence in Women

A new clinical trial is recruiting patients for Chondrodysplasia punctata

New recruiting trial: Vestibular and Postural Function in an Unselected Group of Children With Sensorineural Hearing Loss

A new clinical trial is recruiting patients for Chondrodysplasia punctata

New recruiting trial: Vestibular and Postural Function in Children Suspected of Balance Disorders

A new clinical trial is recruiting patients for Chondrodysplasia punctata

New recruiting trial: 3D Biomimetic Spine Unit Model Through the Integration of Bioprinting and Transcriptomics (CDP-SUBT)

A new clinical trial is recruiting patients for Chondrodysplasia punctata

New recruiting trial: Rhizomelic Chondrodysplasia Punctata Registry

A new clinical trial is recruiting patients for Chondrodysplasia punctata

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 Chondrodysplasia punctata

Are there clinical trials for Chondrodysplasia punctata?

Yes — 1 recruiting clinical trial is currently listed for Chondrodysplasia punctata on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Chondrodysplasia punctata?

4 specialists and care centers treating Chondrodysplasia punctata are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.