ORPHA:399805
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Clinical definition (Orphanet)
A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
Is anyone studying this?
1
1 paper have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · low confidence
Is a treatment being tested?
75
trials for this specific condition
75 interventional trials matched this specific condition name; 22 currently recruiting in our sample.
Data as of 26 July 2026
75 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 95.9th percentile).
low confidence · 95.9th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (AKAP9, ASZ1, CCDC146…).
GenCC classification: Strong.
Who's working on it?
6
Distinct author names in 1 sampled paper — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Agarwal A1 paper · 2021
American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, United States.
Papers in Europe PMC - 02Darbandi S1 paper · 2021
Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
Papers in Europe PMC - 03Finelli R1 paper · 2021
American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, United States.
Papers in Europe PMC - 04Henkel R1 paper · 2021
American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, United States.
Papers in Europe PMC - 05Ko E1 paper · 2021
Department of Urology, Loma Linda University Health, Loma Linda, CA, United States.
Papers in Europe PMC - 06Pushparaj PN1 paper · 2021
Center of Excellence in Genomic Medicine Research and Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
75 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06528691·Entrectinib as a Single Agent in Upfront Therapy for Children <3 Years of Age With NTRK1/2/3 or ROS1-FUSED CNS Tumors
- NCT06552234·Phase II Efficacy Study of Repotrectinib in Frail and/or Elderly Patients With ROS1-rearranged Advanced NSCLC
- NCT01639508·Cabozantinib in Patients With RET Fusion-Positive Advanced Non-Small Cell Lung Cancer and Those With Other Genotypes: ROS1 or NTRK Fusions or Increased MET or AXL Activity
- NCT04322890·Treatment Strategies and Survival Outcome for Non-small Cell Lung Cancer With Oncogenic Mutation
- NCT04094610·A Study of Repotrectinib in Pediatric and Young Adult Subjects Harboring ALK, ROS1, OR NTRK1-3 Alterations
- NCT05770544·DETERMINE Trial Treatment Arm 03: Entrectinib in Adult, Paediatric and Teenage/Young Adult Patients With ROS1 Gene Fusion-Positive Cancers.
- NCT07083687·Lorlatinib in ROS1+ NSCLC With Brain Metastasis
- NCT06716138·A Study to Investigate ANS03 in Participants With Locally Advanced or Metastatic Solid Tumors
- NCT06564324·A Phase III Study Comparing Taletrectinib With Standard Therapy in ROS1 Positive Locally Advanced or Metastatic Non-small Cell Lung Cancer Patients
- NCT05765877·Neoadjuvant WX-0593 in Resectable ALK-positive or ROS1-positive Non-small Cell Lung Cancer
- NCT05681780·Clinical Trial of CD40L-Augmented TIL for Patients With EGFR, ALK, ROS1 or HER2-Driven NSCLC
- NCT05777278·Savolitinib Plus Docetaxel as 2L in EGFR/ALK/ROS1/MET ex14m-wildtype NSCLC With MET Overexpression
- NCT04996121·A Study of XZP-5955 Tablets in Patients With NTRK or ROS1 Fusion Positive Locally Advanced or Metastatic Solid Tumors
- NCT06749886·An Exploratory Study of Tislelizumab in Combination with Chemotherapy in Immuno-experienced Patients with EGFR/ALK/ROS1-negative Advanced NSCLC in the Second-line Setting
- NCT06315010·REPotrectinib in ROS1-positive Non-small Cell Lung Cancer Patients With Active Brain mEtastasis
Observational and natural-history studies
21 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT03042221·Early Rebiopsy to Identify Biomarkers of Tumor Cell Survival Following EGFR, ALK, ROS1 or BRAF TKI Therapy
- NCT07122882·Integrated Genomics in Oncogene-driven NSCLC With Acquired Resistance
- NCT07633626·Vortioxetine for Cognitive Function in ALK-positive NSCLC Treated With Lorlatinib
- NCT07199959·Study on the Mechanism of Acquired Resistance of Entrectinib
- NCT06781905·Description of Neurocognitive and Psychiatric Disorders Associated With Targeted Therapies Used in the Treatment of Lung Cancers With ALK/ROS1 Fusion and Their Impact on Patients' Quality of Life: Construction of an Experimental Patient-researcher Collaborative Care and Research Pathway
- NCT07008287·Real-world Study of Taletrectinib for Advanced ROS1+ NSCLC With Brain Metastases
- NCT07199010·Real-world Study of Taletrectinib in Advanced ROS1+ NSCLC Following Entrectinib Progression
- NCT06694129·Real-world Observational Study of Targeted Therapy in Patients With Advanced ROS1-positive NSCLC
- NCT07599007·Repotrectinib Post-Marketing Surveillance in Korean Patients With ROS1-Positive Non-Small Cell Lung Cancer (NSCLC) or Solid Tumors Harboring a Neurotrophic Tyrosine Receptor Kinase (NTRK) Gene Fusion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Male infertility with azoospermia or oligozoospermia due to single gene mutation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Male infertility with azoospermia or oligozoospermia due to single gene mutation" OR "AKAP9" OR "ASZ1" OR "CCDC146" OR "CEP131" OR "CEP250" OR "CST1" OR "DAZL" OR "DDX25" OR "DDX53" OR "DMRTA2" OR "DNAH6" OR "DNAH7" OR "ELMO1" OR "ESR2" OR "FAM47C" OR "HFM1" OR "HIPK4" OR "HORMAD1" OR "MAGEE2" OR "MMRN1" OR "MOSPD2" OR "NLGN4Y" OR "ODF4" OR "PGK2" OR "PIWIL2" OR "PPP1R36" OR "RIOK2" OR "ROS1" OR "SIRPG" OR "SPAG17" OR "SPATA3" OR "SPIDR" OR "STRA8" OR "TBCCD1" OR "TCEANC" OR "TDP1" OR "TDRD6" OR "TTLL9" OR "ZNF541" OR "ZSWIM7"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 75 interventional · 21 observational · 5 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Trial count (75) far exceeds publication count (1) — trial matching may still be loose