Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:675767OMIM:618752
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

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

Overview

Also known as:

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiencySCN-developmental delay syndrome due to SRP54 deficiency
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Sep 1995

Leukine: FDA approved

Following induction chemotherapy in older adult patients with acute myelogenous leukemia to shorten time to neutrophil recovery and to reduce the incidence of severe and life-threatening infections and infections resulting in death.

FDAcompleted

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

Treatments

No FDA-approved treatments are currently listed for Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency.

View clinical trials →

Clinical Trials

View all trials with filters →

No actively recruiting trials found for Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency community →

Specialists

View all specialists →

No specialists are currently listed for Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiencyForum →

No community posts yet. Be the first to share your experience with Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency.

Start the conversation →

Latest news about Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

No recent news articles for Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency.

Follow this condition to be notified when news becomes available.

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.